rs1799983
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | normal risk |
| (G;T) | increased risk of preeclampsia | |
| (T;T) | increased risk of preeclampsia, also heart disease |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 150999023 |
| Gene | NOS3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1799983 |
| dbSNP (classic) | rs1799983 |
| ClinGen | rs1799983 |
| ebi | rs1799983 |
| HLI | rs1799983 |
| Exac | rs1799983 |
| Gnomad | rs1799983 |
| Varsome | rs1799983 |
| LitVar | rs1799983 |
| Map | rs1799983 |
| PheGenI | rs1799983 |
| Biobank | rs1799983 |
| 1000 genomes | rs1799983 |
| hgdp | rs1799983 |
| ensembl | rs1799983 |
| geneview | rs1799983 |
| scholar | rs1799983 |
| rs1799983 | |
| pharmgkb | rs1799983 |
| gwascentral | rs1799983 |
| openSNP | rs1799983 |
| 23andMe | rs1799983 |
| SNPshot | rs1799983 |
| SNPdbe | rs1799983 |
| MSV3d | rs1799983 |
| GWAS Ctlg | rs1799983 |
| GMAF | 0.197 |
| Max Magnitude | 0 |
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
rs1799983 (also known as Glu298Asp, E298D, or G894T) located in the NOS3 gene was associated with an ~2x risk (p=0.006) of developing pre-eclampsia (pregnancy-induced hypertension) and further complications of it in a study of ~50 African women.[PMID 16059745]
A large meta-analysis combining 26 studies (9,867 patients) found that homozygosity for rs1799983(T;T) increases risk of ischemic heart disease. The odds ratio was 1.31 (CI: 1.13-1.51).[PMID 15007011]
However, a study of 1,600 Greek patients concluded that rs1799983 was not associated with risk of acute myocardial infarction in that population.[PMID 18495009
]
[PMID 19132956] left ventricular hypertrophy in human essential hypertension OR=1.5
[PMID 19419976] Endothelial Nitric Oxide Synthase Tagging Single Nucleotide Polymorphisms and Recovery From Aneurysmal Subarachnoid Hemorrhage
[PMID 19435423] Lack of Association Between Matrix Metalloproteinase-9 and Endothelial Nitric Oxide Synthase Gene Polymorphisms and Coronary Artery Disease in Turkish Population
[PMID 19246226] The endothelial nitric oxide synthase gene and risk of diabetic nephropathy and development of cardiovascular disease in type 1 diabetes
[PMID 19815736] The Relation between Endothelial Nitric Oxide Synthase Gene Variants and Primary Open-Angle Glaucoma: Interactions with Gender and Postmenopausal Hormone Use
[PMID 19960019] Association of NOS3 Glu298Asp SNP with hypertension and possible effect modification of dietary fat intake in the ARIC study
[PMID 20409549] NOS3 gene polymorphisms are associated with risk markers of cardiovascular disease, and interact with omega-3 polyunsaturated fatty acids
[PMID 20467051] Single Nucleotide Polymorphism (SNP) of Endothelial Nitric Oxide Synthase (eNOS) Gene (GLU298ASP Variant) in Infertile Men with Asthenozoospermia
[PMID 20565909] Frequency of eNOS polymorphisms in the Colombian general population
[PMID 20691505] NOS3 gene rs1799983 polymorphism and incident dementia in elderly stroke survivors
[PMID 21174581] Genetic Variants, Endothelial Function, and Risk of Preeclampsia Among American Indians
[PMID 21293869] Influence of endothelial nitric oxide synthase polymorphisms in psoriasis risk
[PMID 21291465] The association of genetic polymorphisms with cerebral palsy: a meta-analysis
[PMID 21886581] Genetic Association Analysis of NOS3 and Methamphetamine-Induced Psychosis Among Japanese
[PMID 21963893] Polymorphisms of genes in nitric oxide-forming pathway associated with ischemic stroke in Chinese Han population
[PMID 21968727] Association of eNOS gene polymorphisms with essential hypertension in the Han population in southwestern China
[PMID 22025889] Reproductive factors and NOS3 variant interactions in primary open-angle glaucoma
[PMID 22031268] Three polymorphisms of the eNOS gene and plasma levels of metabolites of nitric oxide in depressed Japanese patients: a preliminary report
[PMID 22207178] Lack of association between Glu298Asp polymorphism and coronary artery disease in North Indians
[PMID 22251423] NAMPT (visfatin) and AKT1 genetic variants associate with myocardial infarction
[PMID 22417945] The G894T polymorphism on endothelial nitric oxide synthase gene is associated with increased coronary heart disease among Asia population: Evidence from a Meta analysis
| ClinVar | |
|---|---|
| Risk | Rs1799983(G;G) |
| Alt | Rs1799983(G;G) |
| Reference | Rs1799983(T;T) |
| Significance | Other |
| Disease | Coronary artery spasm 1 Alzheimer disease Hypertension Hypertension resistant to conventional therapy Ischemic heart disease Ischemic stroke not specified |
| Variation | info |
| Gene | NOS3 |
| CLNDBN | Coronary artery spasm 1, susceptibility to Alzheimer disease, late-onset, susceptibility to Hypertension, pregnancy-induced, susceptibility to Hypertension resistant to conventional therapy Ischemic heart disease, susceptibility to Ischemic stroke, susceptibility to not specified |
| Reversed | 0 |
| HGVS | NC_000007.13:g.150696111T>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000015053.3, RCV000015054.3, RCV000015055.3, RCV000015056.26, RCV000015057.3, RCV000015058.3, RCV000455688.1, |
[PMID 15500681] Detecting imbalanced expression of SNP alleles by minisequencing on microarrays.
[PMID 15726497] Gene-environment interaction effects on the development of immune responses in the 1st year of life.
[PMID 16820586] Inflammatory gene polymorphisms and risk of postoperative myocardial infarction after cardiac surgery.
[PMID 17101543] Glu298Asp and NOS4ab polymorphisms in diabetic nephropathy.
[PMID 17107626] Comparison of PrASE and Pyrosequencing for SNP Genotyping.
[PMID 17404185] Vascular stiffness and genetic variation at the endothelial nitric oxide synthase locus: the Framingham Heart study.
[PMID 17579350] NOS-I and -III gene variants are differentially associated with facets of suicidal behavior and aggression-related traits.
[PMID 17601350] A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.
[PMID 17605790] Lack of association between endothelial nitric oxide synthase (NOS3) gene polymorphisms and suicide attempts.
[PMID 17717598] Discovery of common human genetic variants of GTP cyclohydrolase 1 (GCH1) governing nitric oxide, autonomic activity, and cardiovascular risk.
[PMID 17980690] Polymorphisms in the endothelial nitric oxide synthase gene and bone density/ultrasound and geometry in humans.
[PMID 18069999] Renin-angiotensin and endothelial nitric oxide synthase gene polymorphisms are not associated with the risk of incident type 2 diabetes mellitus: a prospective cohort study.
[PMID 18194558] A hierarchical and modular approach to the discovery of robust associations in genome-wide association studies from pooled DNA samples.
[PMID 18246059] Habitual energy expenditure modifies the association between NOS3 gene polymorphisms and blood pressure.
[PMID 18279468] Ten renin-angiotensin system-related gene polymorphisms in maximally treated Canadian Caucasian patients with heart failure.
[PMID 18349107] Hyperinsulinemia and impaired leptin-adiponectin ratio associate with endothelial nitric oxide synthase polymorphisms in subjects with in-stent restenosis.
[PMID 18482449] Investigating the complex genetic architecture of ankle-brachial index, a measure of peripheral arterial disease, in non-Hispanic whites.
[PMID 18513389] New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.
[PMID 18622260] Common genetic variation in six lipid-related and statin-related genes, statin use and risk of incident nonfatal myocardial infarction and stroke.
[PMID 18663495] Nitric oxide synthase genes and their interactions with environmental factors in Parkinson's disease.
[PMID 18676870] Variants in inflammation genes and the risk of biliary tract cancers and stones: a population-based study in China.
[PMID 18682580] Oxidative response gene polymorphisms and risk of adult brain tumors.
[PMID 18687083] Lack of association of endothelial nitric oxide synthase polymorphisms and migraine.
[PMID 18698212] Association of renin-angiotensin and endothelial nitric oxide synthase gene polymorphisms with blood pressure progression and incident hypertension: prospective cohort study.
[PMID 18698231] Polymorphisms affecting gene transcription and mRNA processing in pharmacogenetic candidate genes: detection through allelic expression imbalance in human target tissues.
[PMID 18776599] Susceptibility genes for gentamicin-induced vestibular dysfunction.
[PMID 18805939] Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.
[PMID 18936436] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.
[PMID 19131662] A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.
[PMID 19168583] Nitric oxide synthase gene polymorphisms and prostate cancer risk.
[PMID 19263529] Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.
[PMID 19330901] Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.
[PMID 19505917] Lead exposure, polymorphisms in genes related to oxidative stress, and risk of adult brain tumors.
[PMID 19559392] A candidate gene association study of 77 polymorphisms in migraine.
[PMID 19587357] A systematic meta-analysis of genetic association studies for diabetic retinopathy.
[PMID 19729601] Candidate gene polymorphisms for ischemic stroke.
[PMID 20204503] The association between two polymorphisms of eNOS and breast cancer risk: a meta-analysis.
[PMID 20346360] Genetic risk factors for hepatopulmonary syndrome in patients with advanced liver disease.
[PMID 20367485] A variant of the endothelial nitric oxide synthase gene (NOS3) associated with AMS susceptibility is less common in the Quechua, a high altitude Native population.
[PMID 20406163] Fenofibrate and metabolic syndrome.
[PMID 20406466] Genetic variants associated with fasting blood lipids in the U.S. population: Third National Health and Nutrition Examination Survey.
[PMID 20445800] Genetic Polymorphisms in Genes Related to Oxidative Stress (GSTP1, GSTM1, GSTT1, CAT, MnSOD, MPO, eNOS) and Survival of Rectal Cancer Patients after Radiotherapy.
[PMID 20457799] Effects of eNOS polymorphisms on nitric oxide formation in healthy pregnancy and in pre-eclampsia.
[PMID 20565774] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.
[PMID 20624112] Tamm-Horsfall protein gene is associated with distal tubular dysfunction in patients with type 1 diabetes.
[PMID 20811626] Genetic variants in inflammation-related genes are associated with radiation-induced toxicity following treatment for non-small cell lung cancer.
[PMID 21252862] NOS3 variants, physical activity, and blood pressure in the European Youth Heart Study.
[PMID 21332392] Endothelial nitric oxide synthase haplotypes associated with aura in patients with migraine.
[PMID 21577011] NCAM1, TACR1 and NOS genes and temperament: a study on suicide attempters and controls.
[PMID 21613201] The effect of maternal and fetal beta2-adrenoceptor and nitric oxide synthase genotype on vasopressor requirement and fetal acid-base status during spinal anesthesia for cesarean delivery.
[PMID 21674837] Association of NOS3 tag polymorphisms with hypoxic-ischemic encephalopathy.
[PMID 21703358] Polymorphisms in nitric-oxide synthase 3 may influence the risk of urinary-bladder cancer.
[PMID 22064666] Endothelial nitric oxide synthase genotypes and haplotypes modify the responses to sildenafil in patients with erectile dysfunction.
[PMID 22588838] The apoptosis pathway and the genetic predisposition to Achilles tendinopathy.
[PMID 22676277] Vascular associated gene variants in patients with preeclampsia: results from the Danish National Birth Cohort
[PMID 22919264] No difference in genotype frequencies of polymorphisms of the nitric oxide pathway between Caucasian normal and high tension glaucoma patients
[PMID 23269619] Association of endothelial nitric oxide synthase gene polymorphisms with classical risk factors in development of premature coronary artery disease
[PMID 23276910] Association between polymorphism of the NQO1, NOS3 and NFE2L2 genes and AMD
[PMID 23387538] Influence of Endothelial Nitric Oxide Synthase Gene Polymorphisms (-786T/C, 4a4b, 894G/T) on Iranian Kidney Transplant Recipients
[PMID 23512673] More severe clinical course of cardiovascular dysfunction in intensive care unit patients with the 894TT eNOS genotype
[PMID 23603420] Polymorphisms of Angiotensin converting enzyme and nitric oxide synthase 3 genes as risk factors of high-altitude pulmonary edema: a case-control study and meta-analysis
[PMID 23681449] Genes for Elite Power and Sprint Performance: ACTN3 Leads the Way
[PMID 23922896] Genetic Polymorphism of NOS3 with Susceptibility to Deep Vein Thrombosis after Orthopedic Surgery: A Case-Control Study in Chinese Han Population
[PMID 24035903] The -974 C>A (rs3087459) gene polymorphism in the endothelin gene (EDN1) is associated with risk of developing acute coronary syndrome in Mexican patients
[PMID 24213141] A susceptibility haplotype within the endothelial nitric oxide synthase gene influences bone mineral density in hypertensive women
[PMID 24602444] Analysis of nitric oxide synthase gene polymorphisms in neonatal respiratory distress syndrome among the Chinese Han population
[PMID 22729570] AKT3, ANGPTL4, eNOS3, and VEGFA associations with high altitude sickness in Han and Tibetan Chinese at the Qinghai-Tibetan Plateau.
[PMID 22865486] Interaction among nitric oxide (NO)-related genes in migraine susceptibility.
[PMID 22982457] eNOS gene polymorphisms modify the association of PM(10) with oxidative stress.
[PMID 23062210] eNOS tag SNP haplotypes in hypertensive disorders of pregnancy.
[PMID 23107763] Host genetic risk factors for community-acquired pneumonia.
[PMID 23176758] Association of nitric oxide synthase gene polymorphisms (-786T>C, 4a4b, 894G>T) with primary ovarian insufficiency in Korean women.
[PMID 23333443] Analysis of polymorphisms and haplotypes in genes associated with vascular tone, hypertension and oxidative stress in Mexican-Mestizo women with severe preeclampsia.
[PMID 23560644] Polymorphisms in genes involved in the free-radical process in patients with sudden sensorineural hearing loss and Meniere's disease.
[PMID 23563728] Association of endothelial nitric oxide synthase gene polymorphisms with type 2 diabetes mellitus: a meta-analysis.
[PMID 23775455] Endothelial nitric oxide synthase gene polymorphisms and the risk of osteonecrosis of the femoral head in systemic lupus erythematosus.
[PMID 24047197] Endothelial nitric oxide synthase gene variants and haplotypes associated with an increased risk of idiopathic recurrent miscarriage
[PMID 24756758] Association of endothelia nitric oxide synthase gene rs1799983 polymorphism with susceptibility to prostate cancer: a meta-analysis
[PMID 24870799] Nitric oxide synthase 3 gene variants and colorectal cancer: a meta-analysis
[PMID 24085449] Polymorphisms in the endothelial nitric oxide synthase gene associated with recurrent miscarriage
[PMID 24938467] Genetic variants of the endothelial NO synthase gene (eNOS) may confer increased risk of sporadic congenital heart disease
[PMID 24940036] Endothelial nitric oxide synthase polymorphisms and susceptibility to high-tension primary open-angle glaucoma in an Egyptian cohort
[PMID 24972130] Association of the NOS3 intron-4 VNTR polymorphism with aneurysmal subarachnoid hemorrhage
[PMID 25956856] Functional G894T (rs1799983) polymorphism and intron-4 VNTR variant of nitric oxide synthase (NOS3) gene are susceptibility biomarkers of obesity among Tunisians
[PMID 26002446] Endothelial nitric oxide synthase genotypes modulate peripheral vasodilatory properties after myocardial infarction
[PMID 26505452] Polymorphic variations in manganese superoxide dismutase (MnSOD) and endothelial nitric oxide synthase (eNOS) genes contribute to the development of type 2 diabetes mellitus in the Chinese Han population
[PMID 26579581] Genetic and environmental predictors of chronic kidney disease in patients with type 2 diabetes and diabetic foot ulcer: a pilot study
[PMID 26662939] Genotype/allelic combinations as potential predictors of myocardial infarction.
[PMID 27242919] Association of Common Variants in eNOS Gene with Primary Open Angle Glaucoma: A Meta-Analysis.
[PMID 27277665] Genetic risk factors for restenosis after percutaneous coronary intervention in Kazakh population.
[PMID 27706723] Association between functional polymorphisms in the nitric oxide synthase 3 gene and pediatric acute respiratory distress syndrome.
[PMID 28070505] The Association between NOS3 Gene Polymorphisms and Hypoxic-Ischemic Encephalopathy Susceptibility and Symptoms in Chinese Han Population.
[PMID 28403117] Association of the ACE, GSTM1, IL-6, NOS3, and CYP1A1 polymorphisms with susceptibility of mycoplasma pneumoniae pneumonia in Chinese children.
[PMID 28474840] COX2 and NOS3 gene polymorphisms in women with gestational diabetes.
[PMID 29973202] Interaction between endothelial nitric oxide synthase rs1799983, cholesteryl ester-transfer protein rs708272 and angiopoietin-like protein 8 rs2278426 gene variants highly elevates the risk of type 2 diabetes mellitus and cardiovascular disease.
[PMID 30452889] Association of polymorphisms in serotonin and nitric oxide genes with clinical outcome of dengue in Brazilian northeast population.
[PMID 31258766] Involvement of endothelial nitric oxide synthase gene variants in the aggressiveness of uterine cervical cancer.
[PMID 32478477] HSPA1A gene polymorphism rs1008438 is associated with susceptibility to acute mountain sickness in Han Chinese individuals.
[PMID 32655394] Polymorphisms Involved in Platelet Activation and Inflammatory Response on Aspirin-Related Upper Gastrointestinal Bleeding: A Case-Control Study.
